Product Details

SNP ID

rs144113606

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:113096791 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCACGTCCAACACCACGGGCGAGT[C/T]GGACACCGTGGTGTGGAACGAGATC

Phenotype

MIM: 602582 MIM: 604118

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

DTX1 PubMed Links

Additional Information

For this assay, SNP(s) [rs61758447] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

DTX1

Gene Name

deltex E3 ubiquitin ligase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004416.2	5841	Missense Mutation	TCG,TTG	S572L	NP_004407.2
XM_011538009.2	5841	Nonsense Mutation	TCG,TTG	S572L	XP_011536311.1

Gene

RASAL1

Gene Name

RAS protein activator like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193520.1	5841	Intron			NP_001180449.1
NM_001193521.1	5841	Intron			NP_001180450.1
NM_001301202.1	5841	Intron			NP_001288131.1
NM_004658.2	5841	Intron			NP_004649.2
XM_005253950.4	5841	UTR 3			XP_005254007.1
XM_006719641.3	5841	UTR 3			XP_006719704.1
XM_006719642.3	5841	UTR 3			XP_006719705.1
XM_011538852.2	5841	UTR 3			XP_011537154.1
XM_011538853.2	5841	UTR 3			XP_011537155.1
XM_011538854.2	5841	UTR 3			XP_011537156.1
XM_017020028.1	5841	UTR 3			XP_016875517.1
XM_017020029.1	5841	UTR 3			XP_016875518.1
XM_017020030.1	5841	UTR 3			XP_016875519.1
XM_017020031.1	5841	UTR 3			XP_016875520.1

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